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Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.
Features include common findings: Conductive hearing impairment; and sometimes findings: Preauricular pit. 4 total HPO annotations.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:55 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Conductive hearing impairment |
SIX1 function has not been fully characterized.
Autosomal dominant nonsyndromic hearing loss 23 is associated with mutations in the SIX1 gene on chromosome 14.
Genetic testing for SIX1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 23 has been reported in the published literature.
Phenotype severity distribution: 1 common feature.
No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 23.
11 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 23. Research spans Basic Science / Preclinical (27%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 3 | 27% |
Testing and diagnosis research | 2 | 18% |
Research summaries | 2 | 18% |
Patient case studies | 2 | 18% |
Disease patterns and progression | 2 | 18% |
Arif AR (2025). [PMID: 39672236](https://pubmed.ncbi.nlm.nih.gov/39672236/). *J Thromb Haemost*. [Case Report / Case Series]
Wu F (2025). [PMID: 40538303](https://pubmed.ncbi.nlm.nih.gov/40538303/). *Adv Sci (Weinh)*. [Review / Meta-Analysis]
Mutai H (2025). [PMID: 40295800](https://pubmed.ncbi.nlm.nih.gov/40295800/). *Sci Rep*. [Basic Science / Preclinical]
Ferroul F (2025). [PMID: 41005613](https://pubmed.ncbi.nlm.nih.gov/41005613/). *Eur J Med Genet*. [Case Report / Case Series]
González-Aguado R (2025). [PMID: 39905815](https://pubmed.ncbi.nlm.nih.gov/39905815/). *Ann Otol Rhinol Laryngol*. [Epidemiology / Natural History]
Wang W (2025). [PMID: 40389765](https://pubmed.ncbi.nlm.nih.gov/40389765/). *J Assist Reprod Genet*. [Diagnostic / Biomarker]
Otsuka S (2025). [PMID: 39858604](https://pubmed.ncbi.nlm.nih.gov/39858604/). *Genes (Basel)*. [Basic Science / Preclinical]
Jia H (2025). [PMID: 41368761](https://pubmed.ncbi.nlm.nih.gov/41368761/). *FASEB J*. [Basic Science / Preclinical]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]
Antunes LN (2024). [PMID: 39498320](https://pubmed.ncbi.nlm.nih.gov/39498320/). *Front Genet*. [Epidemiology / Natural History]